Article
First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Dec 2015
Tincheva Savina, Todorov Tihomir, Todorova Albena, Georgieva Ralica, Stamatov Dimitar, Yordanova Iglika, Kadiyska Tanya, Georgieva Bilyana, Bojidarova Maria, Tacheva Genoveva, Litvinenko Ivan, Mitev Vanyo
Abstract excerpt
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder characterized by intractable seizures in neonates and infants. The seizures cannot be controlled with antiepileptic medications but respond both clinically and electrographically to large daily supplements of pyridoxine (vitamin B6). PDE is caused by mutations in the ALDH7A1 gene. Molecular genetic analysis of the ALDH7A1 gene was...
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